The Tulip classification of perinatal mortality: introduction and multidisciplinary inter‐rater agreement FJ Korteweg, SJ Gordijn, A Timmer, J Erwich, KA Bergman, K Bouman, ... BJOG: An International Journal of Obstetrics & Gynaecology 113 (4), 393-401, 2006 | 223 | 2006 |
Cytogenetic analysis after evaluation of 750 fetal deaths: proposal for diagnostic workup FJ Korteweg, K Bouman, JJHM Erwich, A Timmer, NJGM Veeger, ... Obstetrics & Gynecology 111 (4), 865-874, 2008 | 149 | 2008 |
Allele sharing on chromosome 11q13 in sibs with asthma and atopy JM Collee, LP Ten Kate, HG De Vries, JW Kliphuis, K Bouman, H Scheffer, ... The Lancet 342 (8876), 936, 1993 | 118 | 1993 |
A report on 10 new patients with heterozygous mutations in the COL11A1 gene and a review of genotype–phenotype correlations in type XI collagenopathies M Majava, KP Hoornaert, D Bartholdi, MC Bouma, K Bouman, M Carrera, ... American Journal of Medical Genetics Part A 143 (3), 258-264, 2007 | 106 | 2007 |
The introduction of arrays in prenatal diagnosis: a special challenge A Vetro, K Bouman, R Hastings, DJ McMullan, JR Vermeesch, K Miller, ... Human mutation 33 (6), 923-929, 2012 | 87 | 2012 |
Clinical impact of additional findings detected by genome-wide non-invasive prenatal testing: Follow-up results of the TRIDENT-2 study L van Prooyen Schuurman, EA Sistermans, D Van Opstal, L Henneman, ... The American Journal of Human Genetics 109 (6), 1140-1152, 2022 | 79* | 2022 |
Perinatal death investigations: What is current practice? JW Nijkamp, NJ Sebire, K Bouman, FJ Korteweg, J Erwich, SJ Gordijn Seminars in Fetal and Neonatal Medicine 22 (3), 167-175, 2017 | 77 | 2017 |
A reduced size of the ovarian follicle pool is associated with an increased risk of a trisomic pregnancy in IVF-treated women ML Haadsma, TM Mooij, H Groen, CW Burger, CB Lambalk, ... Human Reproduction 25 (2), 552-558, 2010 | 76 | 2010 |
Stillbirth and neonatal mortality in pregnancies complicated by major congenital anomalies: findings from a large European cohort H Groen, K Bouman, A Pierini, J Rankin, A Rissmann, M Haeusler, ... Prenatal diagnosis 37 (11), 1100-1111, 2017 | 67 | 2017 |
Further delineation of the KAT6B molecular and phenotypic spectrum T Gannon, R Perveen, H Schlecht, S Ramsden, B Anderson, B Kerr, ... European Journal of Human Genetics 23 (9), 1165-1170, 2015 | 63 | 2015 |
Fluticasone propionate in children with moderate asthma. MO Hoekstra, MH Grol, K Bouman, T Stijnen, GH Köeter, HF Kauffman, ... American journal of respiratory and critical care medicine 154 (4), 1039-1044, 1996 | 60 | 1996 |
Multiplex ligation-dependent probe amplification versus karyotyping in prenatal diagnosis: the MAKE study EMA Boormans, E Birnie, HI Wildschut, HG Schuring-Blom, D Oepkes, ... BMC Pregnancy and Childbirth 8, 1-5, 2008 | 57 | 2008 |
Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder MW Friederich, S Timal, CA Powell, C Dallabona, A Kurolap, ... Nature communications 9 (1), 4065, 2018 | 52 | 2018 |
Noninvasive prenatal test results indicative of maternal malignancies: a nationwide genetic and clinical follow-up study CJ Heesterbeek, SM Aukema, RJH Galjaard, EMJ Boon, MI Srebniak, ... Journal of Clinical Oncology 40 (22), 2426-2435, 2022 | 48 | 2022 |
A prospective study on rapid exome sequencing as a diagnostic test for multiple congenital anomalies on fetal ultrasound N Corsten‐Janssen, K Bouman, JCD Diphoorn, AJ Scheper, R Kinds, ... Prenatal diagnosis 40 (10), 1300-1309, 2020 | 46 | 2020 |
Outcome of infants presenting with echogenic bowel in the second trimester of pregnancy HD Buiter, MAGHO Scholtenhuis, K Bouman, R van Baren, CM Bilardo, ... Archives of Disease in Childhood-Fetal and Neonatal Edition 98 (3), F256-F259, 2013 | 43 | 2013 |
Hepatitis C infection among intravenous drug users attending therapy programs in Cyprus VL Demetriou, DAMC van de Vijver, J Hezka, Cyprus IVDU Network, ... Journal of medical virology 82 (2), 263-270, 2010 | 43 | 2010 |
Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families L Henneman, L Kooij, K Bouman, LP Kate American journal of medical genetics 110 (4), 324-331, 2002 | 43 | 2002 |
Identification of a nonsense mutation at the 5'end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. R Vrtel, S Verhoef, K Bouman, MM Maheshwar, M Nellist, AJ Van Essen, ... Journal of medical genetics 33 (1), 47-51, 1996 | 37 | 1996 |
Eosinophil and mast cell parameters in children with stable moderate asthma MO Hoekstra, MH Grol, H Hovenga, K Bouman, T Stijnen, GH Koëter, ... Pediatric allergy and immunology 9 (3), 143-149, 1998 | 33 | 1998 |